ClinVar Miner

List of variants in gene OSTM1 reported as likely benign for bone remodeling disease

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014028.4(OSTM1):c.615+8A>G rs144204437 0.00220
NM_014028.4(OSTM1):c.*2366A>G rs564822548 0.00143
NM_014028.4(OSTM1):c.495A>G (p.Thr165=) rs137974384 0.00110
NM_014028.4(OSTM1):c.*3192A>C rs185905869 0.00058
NM_014028.4(OSTM1):c.198A>G (p.Gly66=) rs565610194 0.00015
NM_014028.4(OSTM1):c.300G>T (p.Gly100=) rs199570880 0.00014
NM_014028.4(OSTM1):c.960C>G (p.Leu320=) rs201793834 0.00001
NM_014028.4(OSTM1):c.*2276C>A rs546976371

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